Coronal synostosis syndactyly jejunal atresia
Coronal Synostosis Syndactyly Jejunal Atresia is a rare congenital condition characterized by a combination of craniosynostosis, syndactyly, and jejunal atresia. This article provides an overview of the condition, including its symptoms, causes, diagnosis, and treatment options.
Symptoms and Characteristics[edit | edit source]
The primary features of Coronal Synostosis Syndactyly Jejunal Atresia include:
- Craniosynostosis: Premature fusion of the skull bones, specifically the coronal suture, leading to an abnormal head shape.
- Syndactyly: Fusion of two or more fingers or toes.
- Jejunal Atresia: A blockage in the jejunum, a part of the small intestine, which can cause vomiting, abdominal distension, and failure to pass meconium.
Patients may also exhibit additional anomalies such as heart defects, kidney abnormalities, and growth retardation.
Causes[edit | edit source]
The exact cause of Coronal Synostosis Syndactyly Jejunal Atresia is currently unknown. It is believed to involve genetic factors, possibly with an autosomal recessive inheritance pattern. However, the specific genes involved have not been identified.
Diagnosis[edit | edit source]
Diagnosis of Coronal Synostosis Syndactyly Jejunal Atresia is based on clinical examination and imaging studies. Prenatal ultrasound may detect signs of jejunal atresia. After birth, computed tomography (CT) or magnetic resonance imaging (MRI) can confirm craniosynostosis and syndactyly. Genetic testing may be conducted to rule out other syndromes with similar features.
Treatment[edit | edit source]
Treatment for Coronal Synostosis Syndactyly Jejunal Atresia is multidisciplinary and may involve:
- Surgery to correct the craniosynostosis and syndactyly.
- Surgical intervention to address jejunal atresia and any associated gastrointestinal issues.
- Supportive care for any additional anomalies, such as heart or kidney defects.
Early intervention and a tailored treatment plan are crucial for managing the condition and improving the quality of life for affected individuals.
Prognosis[edit | edit source]
The prognosis for individuals with Coronal Synostosis Syndactyly Jejunal Atresia varies depending on the severity of the anomalies and the success of surgical interventions. Early and effective treatment can significantly improve outcomes.
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Contributors: Prab R. Tumpati, MD
